Alkaptonuria

Alkaptonuria ndi chinthu chosowa kwambiri chomwe mkodzo wa munthu umasinthira utoto wakuda utawonekera mumlengalenga. Alkaptonuria ndi mbali ya gulu la zinthu zomwe zimadziwika kuti cholakwika chobadwa ndi metabolism.

Cholakwika mu HGD jini imayambitsa alkaptonuria.

Kulephera kwa majini kumapangitsa thupi kulephera kuwononga amino acid (tyrosine ndi phenylalanine). Zotsatira zake, chinthu chotchedwa homogentisic acid chimakula pakhungu ndi ziwalo zina za thupi. Asidi amachoka mthupi kudzera mumkodzo. Mkodzo umasanduka wa bulauni-wakuda ukasakanikirana ndi mpweya.

Alkaptonuria ndi yotengera, zomwe zikutanthauza kuti imadutsa m'mabanja. Ngati makolo onse atenga mtundu wosagwira ntchito wokhudzana ndi vutoli, mwana wawo aliyense ali ndi mwayi 25% (1 mwa 4) wokhala ndi matendawa.

Mkodzo mumtondo wa khanda ungade ndipo ungasanduke wakuda patadutsa maola angapo. Komabe, anthu ambiri omwe ali ndi vutoli sangadziwe kuti ali nawo. Matendawa amapezeka nthawi zambiri ali pakati paukalamba (azaka pafupifupi 40), pakakhala zovuta zina komanso zovuta zina.

Zizindikiro zimaphatikizapo:

• Matenda a nyamakazi (makamaka a msana) omwe amakula kwambiri pakapita nthawi
• Mdima wa khutu
• Mawanga akuda pamaso oyera ndi diso

Kuyezetsa mkodzo kumachitika kuti muyese alkaptonuria. Ngati ferric chloride iwonjezeredwa mkodzo, imapangitsa mkodzo kukhala wakuda mwa anthu omwe ali ndi vutoli.

Kuwongolera kwa alkaptonuria nthawi zambiri kumayang'ana kuwongolera zizindikilo. Kudya zakudya zochepa zomanga thupi kungakhale kothandiza, koma anthu ambiri zimawavuta. Mankhwala, monga ma NSAID ndi chithandizo chamankhwala atha kuthandiza kuthana ndi kupweteka pamodzi.

Ziyeso zamankhwala zikuchitika kuti mankhwala ena azitha kuthana ndi vutoli ndikuwunika ngati mankhwala a nitisinone amapereka thandizo kwakanthawi ndi matendawa.

Zotsatira zikuyembekezeka kukhala zabwino.

Kupanga kwa homogentisic acid mu cartilage kumayambitsa nyamakazi kwa achikulire ambiri omwe ali ndi alkaptonuria.

• Homogentisic acid imathanso kumangirira pamatumba amtima, makamaka mitral valve. Izi nthawi zina zimatha kubweretsa kufunikira kosinthira ma valve.
• Matenda a mitsempha amatha kuyamba m'moyo mwa anthu omwe ali ndi alkaptonuria.
• Amwala a impso ndi miyala ya prostate amatha kukhala ofala kwambiri kwa anthu omwe ali ndi alkaptonuria.

Itanani woyang'anira zaumoyo wanu mukawona kuti mkodzo wanu kapena mkodzo wa mwana wanu umakhala wakuda kapena wakuda ukawululidwa.

Upangiri wamtunduwu umalimbikitsidwa kwa anthu omwe ali ndi mbiri yabanja ya alkaptonuria omwe akuganiza zokhala ndi ana.

Kuyezetsa magazi kungachitike kuti muwone ngati muli ndi jini la alkaptonuria.

Mayeso oyembekezera (amniocentesis kapena chorionic villus sampling) atha kuchitidwa kuti muwonetse mwana yemwe akukula chifukwa cha vutoli ngati kusintha kwa majini kwadziwika.

AKU; Alcaptonuria; Kusowa kwa Homogentisic acid oxidase; Alcaptonuric ochronosis

James WD, Elston DM, Chitani JR, Rosenbach MA, Neuhaus IM. Matenda a mycobacterial. Mu: James WD, Elston DM, Tsatirani JR, Rosenbach MA, Neuhaus IM, eds. Matenda a Andrews a Khungu. Wolemba 13. Philadelphia, PA: Elsevier; 2020: chap 16.

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Zofooka zamagetsi zama amino acid. Mu: Kliegman RM, St. Geme JW, Schor NF, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 103.

National Institutes of Health, National Library of Medicine. Kuphunzira kwakanthawi kwa nitisinone kuchiza alkaptonuria. Clintrials.gov/ct2/show/NCT00107783. Idasinthidwa pa Januware 19, 2011. Idapezeka pa Meyi 4, 2019.

(Adasankhidwa) Riley RS, McPherson RA. Kuwunika koyambirira kwa mkodzo. Mu: McPherson RA, Pincus MR, olemba., Eds. Henry's Clinical Diagnosis and Management by Laboratory Methods. Wachitatu. St Louis, MO: Elsevier; 2017: mutu 28.